Incidental Mutation 'R4344:Ugt2b5'
ID |
324259 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt2b5
|
Ensembl Gene |
ENSMUSG00000054630 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B5 |
Synonyms |
Udpgt-3, m-1 |
MMRRC Submission |
041101-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R4344 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
87272819-87288177 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87287582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 195
(V195E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068282
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067790]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067790
AA Change: V195E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000068282 Gene: ENSMUSG00000054630 AA Change: V195E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
24 |
527 |
7.9e-256 |
PFAM |
Pfam:Glyco_tran_28_C
|
352 |
449 |
5.3e-8 |
PFAM |
|
Meta Mutation Damage Score |
0.7022 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
G |
T |
1: 25,865,829 (GRCm39) |
R5S |
possibly damaging |
Het |
Ccdc168 |
G |
A |
1: 44,100,151 (GRCm39) |
L316F |
possibly damaging |
Het |
Ccdc187 |
T |
A |
2: 26,170,681 (GRCm39) |
K599I |
probably damaging |
Het |
Ccn5 |
G |
A |
2: 163,670,906 (GRCm39) |
V138M |
probably damaging |
Het |
Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
Cep19 |
C |
T |
16: 31,925,883 (GRCm39) |
T97M |
probably damaging |
Het |
Ces2a |
T |
G |
8: 105,463,766 (GRCm39) |
D159E |
probably damaging |
Het |
Dcc |
G |
A |
18: 71,507,561 (GRCm39) |
A917V |
probably damaging |
Het |
Dennd6b |
G |
A |
15: 89,072,866 (GRCm39) |
A196V |
probably benign |
Het |
Dlgap3 |
T |
C |
4: 127,108,141 (GRCm39) |
S475P |
possibly damaging |
Het |
Doc2a |
C |
T |
7: 126,450,321 (GRCm39) |
P156S |
probably damaging |
Het |
Elmo1 |
T |
A |
13: 20,445,722 (GRCm39) |
|
probably null |
Het |
Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
Klk1b8 |
C |
A |
7: 43,595,186 (GRCm39) |
|
probably benign |
Het |
Lmcd1 |
T |
A |
6: 112,264,968 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
A |
13: 13,873,051 (GRCm39) |
I2750K |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,590,666 (GRCm39) |
N2958S |
possibly damaging |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Ppp1r16b |
G |
A |
2: 158,591,106 (GRCm39) |
V163I |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,585,886 (GRCm39) |
W2475R |
probably damaging |
Het |
Rad54l |
C |
T |
4: 115,954,551 (GRCm39) |
C684Y |
probably damaging |
Het |
Ralgds |
T |
C |
2: 28,442,107 (GRCm39) |
L96P |
probably damaging |
Het |
Rasef |
T |
A |
4: 73,663,326 (GRCm39) |
H167L |
probably damaging |
Het |
Sh3bp2 |
T |
C |
5: 34,712,886 (GRCm39) |
F165L |
possibly damaging |
Het |
Slc38a9 |
T |
C |
13: 112,865,749 (GRCm39) |
I482T |
probably benign |
Het |
Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
Ttc39c |
T |
A |
18: 12,861,667 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vmn2r22 |
C |
T |
6: 123,614,756 (GRCm39) |
G278D |
probably damaging |
Het |
Yme1l1 |
G |
A |
2: 23,063,073 (GRCm39) |
A215T |
probably benign |
Het |
Zmynd15 |
C |
T |
11: 70,351,894 (GRCm39) |
R38* |
probably null |
Het |
|
Other mutations in Ugt2b5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00702:Ugt2b5
|
APN |
5 |
87,273,078 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00742:Ugt2b5
|
APN |
5 |
87,275,673 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01527:Ugt2b5
|
APN |
5 |
87,284,068 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01530:Ugt2b5
|
APN |
5 |
87,285,104 (GRCm39) |
missense |
probably benign |
0.08 |
IGL01637:Ugt2b5
|
APN |
5 |
87,287,759 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02371:Ugt2b5
|
APN |
5 |
87,275,535 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02993:Ugt2b5
|
APN |
5 |
87,285,091 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03114:Ugt2b5
|
APN |
5 |
87,276,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R0372:Ugt2b5
|
UTSW |
5 |
87,288,117 (GRCm39) |
missense |
probably benign |
0.05 |
R0568:Ugt2b5
|
UTSW |
5 |
87,285,224 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R0650:Ugt2b5
|
UTSW |
5 |
87,287,627 (GRCm39) |
missense |
probably benign |
0.00 |
R1660:Ugt2b5
|
UTSW |
5 |
87,287,477 (GRCm39) |
missense |
probably benign |
0.00 |
R1907:Ugt2b5
|
UTSW |
5 |
87,287,489 (GRCm39) |
missense |
probably benign |
0.19 |
R1955:Ugt2b5
|
UTSW |
5 |
87,275,631 (GRCm39) |
missense |
probably benign |
0.18 |
R2389:Ugt2b5
|
UTSW |
5 |
87,275,541 (GRCm39) |
missense |
probably damaging |
0.98 |
R2435:Ugt2b5
|
UTSW |
5 |
87,287,465 (GRCm39) |
missense |
probably damaging |
0.99 |
R2919:Ugt2b5
|
UTSW |
5 |
87,273,266 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2920:Ugt2b5
|
UTSW |
5 |
87,273,266 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4342:Ugt2b5
|
UTSW |
5 |
87,287,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R4343:Ugt2b5
|
UTSW |
5 |
87,287,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R4355:Ugt2b5
|
UTSW |
5 |
87,287,622 (GRCm39) |
nonsense |
probably null |
|
R4380:Ugt2b5
|
UTSW |
5 |
87,275,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R4789:Ugt2b5
|
UTSW |
5 |
87,287,550 (GRCm39) |
missense |
probably benign |
0.14 |
R4993:Ugt2b5
|
UTSW |
5 |
87,287,532 (GRCm39) |
missense |
probably benign |
0.00 |
R5731:Ugt2b5
|
UTSW |
5 |
87,288,111 (GRCm39) |
nonsense |
probably null |
|
R6035:Ugt2b5
|
UTSW |
5 |
87,287,541 (GRCm39) |
missense |
probably benign |
0.09 |
R6035:Ugt2b5
|
UTSW |
5 |
87,287,541 (GRCm39) |
missense |
probably benign |
0.09 |
R6491:Ugt2b5
|
UTSW |
5 |
87,273,328 (GRCm39) |
nonsense |
probably null |
|
R7015:Ugt2b5
|
UTSW |
5 |
87,287,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R7203:Ugt2b5
|
UTSW |
5 |
87,276,258 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7212:Ugt2b5
|
UTSW |
5 |
87,273,131 (GRCm39) |
missense |
probably benign |
0.06 |
R7750:Ugt2b5
|
UTSW |
5 |
87,288,108 (GRCm39) |
missense |
probably benign |
0.11 |
R8384:Ugt2b5
|
UTSW |
5 |
87,287,924 (GRCm39) |
missense |
probably benign |
|
R8465:Ugt2b5
|
UTSW |
5 |
87,287,518 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9336:Ugt2b5
|
UTSW |
5 |
87,285,130 (GRCm39) |
missense |
probably benign |
0.00 |
R9678:Ugt2b5
|
UTSW |
5 |
87,273,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R9682:Ugt2b5
|
UTSW |
5 |
87,287,522 (GRCm39) |
missense |
probably damaging |
0.97 |
R9727:Ugt2b5
|
UTSW |
5 |
87,288,165 (GRCm39) |
start codon destroyed |
probably damaging |
0.97 |
X0004:Ugt2b5
|
UTSW |
5 |
87,276,230 (GRCm39) |
nonsense |
probably null |
|
X0021:Ugt2b5
|
UTSW |
5 |
87,284,070 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGACTGATACTGATACCTTCTCCTG -3'
(R):5'- GCTCATGACAAAGCTACAGGAATCC -3'
Sequencing Primer
(F):5'- CACTTGTGAAACTTAGGTTTTCAAGC -3'
(R):5'- GCTACAGGAATCCAAGTTTGATGTCC -3'
|
Posted On |
2015-06-24 |